Canonical Allele Identifier: PA2827765230
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189858
ClinVar RCV Id: RCV000180811
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340879.1:p.Met949Arg
CA303122
NM_001353950.2:c.2846T>G